2016-10-20T18:29:27ZSitosterolémia - uma causa rara de uma situação comumhttp://hdl.handle.net/10400.18/4003
Título: Sitosterolémia - uma causa rara de uma situação comum
Autor: Garcia, A.M.; Padeira, G.; Conde, M.; Carvalho, R.; João, A.; Gomes, I.; Bosquet, Lucas G.; Correia, C.; Valongo, C.; Dias, A.; Medeiros, A.; Bourbon, Mafalda; Ferreira, A.C.
Resumo: Introdução: A Sitosterolémia (OMIM 210250) é uma doença autossómica recessiva rara do metabolismo dos esteróis vegetais. É causada por mutações nos genes ABCG5 ou ABCG8 (2p21) que codificam as proteínas esterolina 1 e 2 do transportador ABC (ATP-binding cassette), com consequente comprometimento da excreção intestinal e biliar de esteróis e sua acumulação no sangue e tecidos.
Clinicamente é caracterizada pela presença de xantomas, níveis elevados de colesterol e aterosclerose prematura, fazendo diagnóstico diferencial com a Hipercolesterolémia Familiar.
Descrição: Prémio de Melhor Poster.2016-06-01T00:00:00ZCharacterisation of the Lipid Profile of the Portuguese Populationhttp://hdl.handle.net/10400.18/3980
Título: Characterisation of the Lipid Profile of the Portuguese Population
Autor: Mariano, Cibelle; Antunes, Marília; Bourbon, Mafalda
Resumo: Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important roles. The incidence rates of these diseases are increasing in developing countries as a result of the modification of lifestyles and increased prevalence of cardiovascular risk factors. Many independent cardiovascular risk factors could be modifiable, in contrast to the genetic risk factors. However, the associated risk of the genetic factors can be prevented if early identified, making genetic studies a priority in cardiovascular genetics research.2016-07-01T00:00:00ZNetwork analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemiahttp://hdl.handle.net/10400.18/3979
Título: Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia
Autor: Rossi, Niccolò; Bourbon, Mafalda
Resumo: Still a big gap exists between clinical and genetic diagnosis of dyslipidemic disorders. Almost the 60% of the patients with a clinical diagnosis of Familial hypercholesterolemia (FH) still lack of a genetic diagnosis.
Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease.
Interesting hits will be subsequently knocked down in vitro in order to evaluate their functional role in the uptake of fluorescently-labeled LDL and free cell cholesterol using automated microscopy.2016-07-01T00:00:00ZNeuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issueshttp://hdl.handle.net/10400.18/3978
Título: Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues
Autor: Marques, Ana Rita; Martiniano, Hugo; Romão, Luísa; Vicente, A.M.
Resumo: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests. ASD often co-occurs in the same families with other neuropsychiatric diseases (NPD), such as intellectual disability, schizophrenia, epilepsy, depression and attention deficit hyperactivity disorder.
Genetic factors have an important role in ASD etiology. Multiple copy number variants (CNVs) and single nucleotide variants (SNVs) in candidate genes have been associated with an increased risk to develop ASD. Nevertheless, recent heritability estimates and the high genotypic and phenotypic heterogeneity characteristic of ASD indicate a role of environmental and epigenetic factors, such as long noncoding RNA (lncRNA) and microRNA (miRNA), as modulators of genetic expression and further clinical presentation.
Both miRNA and lncRNA are functional RNA molecules that are transcribed from DNA but not translated into proteins, instead they act as powerful regulators of gene expression. While miRNA are small noncoding RNAs with 22-25 nucleotides in length that act at the post-transcriptional level of gene expression, the lncRNA are bigger molecules (>200 nucleotides in length) that are capped, spliced, and polyadenylated, similar to messenger RNA. Although few lncRNA were well characterized until date, there is a great evidence that they are implicated in several levels of gene expression (transcription/post-transcription/post-translation, organization of protein complexes, cell– cell signaling as well as recombination) as shown in figure 1.2016-07-01T00:00:00Z